Variant report

Variant	rs2296604
Chromosome Location	chr10:90761715-90761716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90760115..90762878-chr10:90763662..90767506,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10788628	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10887878	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10887885	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10887886	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11202926	0.90[ASN][1000 genomes]
rs11202928	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11202931	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1159120	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1468063	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1926191	0.80[ASN][1000 genomes]
rs1926192	0.81[ASN][1000 genomes]
rs1926193	0.81[ASN][1000 genomes]
rs2147418	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2296601	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296602	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2296603	0.81[ASN][1000 genomes]
rs2862830	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2862831	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2862832	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7069750	0.83[ASN][1000 genomes]
rs7896789	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7911226	0.81[ASN][1000 genomes]
rs7914779	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7915235	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7920305	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs874144	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs874145	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9658767	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9658769	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs982764	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv551841	chr10:90759724-90775756	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90751800-90768200	Weak transcription	Spleen	Spleen
2	chr10:90752000-90770000	Weak transcription	Placenta	Placenta
3	chr10:90752000-90770800	Weak transcription	Esophagus	oesophagus
4	chr10:90752200-90768400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:90752800-90773400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:90754000-90779400	Weak transcription	HepG2	liver
7	chr10:90754000-90789600	Weak transcription	A549	lung
8	chr10:90754200-90763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:90754200-90767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:90755600-90762600	Weak transcription	Liver	Liver
11	chr10:90755600-90768200	Weak transcription	Lung	lung
12	chr10:90755600-90771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:90755600-90776000	Weak transcription	Left Ventricle	heart
14	chr10:90755600-90776200	Weak transcription	Pancreas	Pancrea
15	chr10:90755800-90762400	Weak transcription	Hela-S3	cervix
16	chr10:90756200-90781800	Weak transcription	Stomach Mucosa	stomach
17	chr10:90756800-90769200	Weak transcription	Colonic Mucosa	Colon
18	chr10:90757000-90770800	Weak transcription	Primary B cells from cord blood	blood
19	chr10:90757200-90761800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:90757400-90762600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:90757600-90761800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:90759000-90761800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:90759000-90761800	Enhancers	Osteobl	bone
24	chr10:90759000-90762200	Flanking Active TSS	GM12878-XiMat	blood
25	chr10:90759400-90761800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr10:90759400-90763600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:90759400-90763800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:90760200-90762000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr10:90760200-90762000	Enhancers	Fetal Lung	lung
30	chr10:90760200-90762200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr10:90760400-90761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:90760400-90761800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:90760400-90761800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:90760400-90761800	Enhancers	HSMMtube	muscle
35	chr10:90760400-90762000	Enhancers	Fetal Muscle Leg	muscle
36	chr10:90760400-90762200	Enhancers	Brain Anterior Caudate	brain
37	chr10:90760400-90762200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:90760400-90762400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr10:90760400-90762400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:90760400-90762800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr10:90760400-90762800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:90760400-90764800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:90760400-90780400	Weak transcription	Brain Angular Gyrus	brain
44	chr10:90760600-90761800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr10:90760600-90761800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr10:90760600-90761800	Enhancers	Small Intestine	intestine
47	chr10:90760600-90762000	Enhancers	NHEK	skin
48	chr10:90760600-90762400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:90760600-90762600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:90760600-90762800	Enhancers	Duodenum Smooth Muscle	Duodenum

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